The Association of TOX3 Copy Number Variation with Gene Expression and Susceptibility to Nonsyndromic Cleft Lip and/or Palate in a Malay Cohort Nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital malformation with genetic influences. While Thymocyte selection-associated high mobility group box 3 (TOX3) is involved in other developmental processes, its role in NSCL/P remained unexplored. This study investigated the association between TOX3 copy number, expression, and NSCL/P in 64 Malay NSCL/P cases and 64 normal controls. Samples from patients undergoing cleft repair surgery and eligible volunteers for the control group were quantified via quantitative polymerase chain reactions (qPCR). A higher mean of TOX3 copy number was found in cases (2.195 ± 0.689) compared to controls (1.962 ± 0.558; p < 0.05). Similarly, a higher TOX3 expression was observed in cases (0.014 [IQR 0.024]) compared to controls (0.006 [IQR 0.019]; p < 0.001). Unadjusted analyses showed higher TOX3 copy number (OR = 1.850; p < 0.05) and its expression associated with NSCL/P. However, these associations were nullified after adjusting for sex and age (p > 0.05). Instead, male sex emerged as a significant independent predictor for NSCL/P (adjusted OR = 4.03; p < 0.001). Besides, an inverse, weak correlation was observed between TOX3 copy number and expression in NSCL/P patients (ρ = –0.285; p < 0.05) indicating the potential role of epigenetics in this condition. While male sex strongly contributed to the NSCL/P condition, our results suggest that TOX3 is not an independent genetic risk factor for NSCL/P in this population. These results highlight sex as a primary demographic risk factor and underscore the importance of considering demographic context in genetic association studies.

ABSTRACT Orofacial clefts (OFC) are one of the most common birth defects that affects the lip, palate, or lip and palate of an infant. The deterioration of clefts is multifactorial involving multiple genes, various interactions from environmental factor and most forgotten, mitochondrial abnormality. The aim of this review is to highlight the importance of mitochondrial activity related to non-syndromic OFC deformity. Despite its important role in cells, the study on mitochondrial activity in cleft pathology was scarce and almost forgotten compared to other genetic investigations. This systematic review was completed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. The literature search was done via the following databases: Google Scholar, Pubmed and Scopus with a total of nine studies of mitochondrial abnormalities were included. We hypothesise that mitochondria play an important role in early craniofacial development. A decreased in its function or activity may result in cleft lip formation. Hence, we would like to shed light on the remarkable role of mitochondria activity in the pathogenesis of non-syndromic OFC.
Mitochondria--pathology ; DNA, Mitochondrial ; Cleft Lip ; Cleft Palate

Eye socket contracture is a well-known late complication of enucleation surgery, and the additional insult of radiotherapy at an early age causes even further fibrosis and scarring of the socket. Management of the contracted socket is challenging, and several methods have been proposed. We report a case of eye socket contracture after enucleation and radiotherapy in which multiple reconstructive procedures failed. The recurrent contracture caused difficulty in housing and retaining the eye prosthesis. We reconstructed the lower eyelid with a facial artery myomucosal flap and nasolabial flap, and the upper eyelid with a Fricke flap following reconstruction of the orbital rims (supraorbital and infraorbital rims with a calvarial bone graft, and further augmentation of the infraorbital rim with a rib bone graft). Cosmesis post-reconstruction was acceptable and the prosthesis was retained very well.

Introduction: Lower extremity vascular injury can result in either temporary or permanent disability. Methods: This is a clinical audit involving all patients admitted to our institution from January 2008 to June 2018 of those who had undergone revascularization surgery for lower limb trauma. Results: Fifty-nine patients were in this study with a mean age of 28.1 years. Most of the patients were motorcyclist involved in road traffic accidents with cars (n=30, 50.8%). The popliteal artery was most commonly seen injury (n=41, 69.5%). The mean duration of ischaemia was 14.1 hours. The limb salvage rate was 89.8%. Conclusion: Lower extremity vascular injury caused by RTA treated in our institution predominantly involved young patients aged between 18–30 years associated with long bone fractures causing contusion and thrombosis of the popliteal artery.

We report our experience of treating two patients with ankle amputation with different presentations. The first case was a clean-cut sharp amputation. The second case was an avulsion injury following a motor vehicle accident in a patient who arrived 8 hours after the injury. Replantation was successful in both cases. In avulsion injuries, a secondary operation for wound coverage is required at a later stage. With good strategy and a support team, encouraging limb survival outcomes are possible post-replantation.

BACKGROUND: Anterior palatal repair performed during cleft lip repair using a vomerine flap may assist in recruiting additional soft tissue for subsequent completion of palatoplasty, especially in patients with a wide cleft. We present our early results in the hope of triggering a re-evaluation of this technique regarding its advantages for maxillary growth through further studies of patients with a wide cleft. METHODS: A retrospective analysis of patients with complete unilateral and bilateral cleft lip and palate was performed, including cleft and palatal measurements taken during initial surgery (lip repair together with anterior palate repair) and upon completion of palatoplasty. RESULTS: In total, 14 patients were included in this study, of whom nine (63.3%) had unilateral cleft lip and palate and five (37.5%) had bilateral cleft. All patients had a wide cleft palate. Lip and anterior palate repair was done at a median age of 3 months, while completion of palatoplasty was done at a median age of 10.5 months. Measurements taken upon completion of palatoplasty showed significant cleft width reduction in the mid-palate and intertubercle regions; however, the palatal arch distances at nearby landmarks showed non-significant marginal changes. CONCLUSIONS Anterior palate repair using a vomerine flap significantly reduced the remaining cleft width, while the palatal width remained. Further research is warranted to explore the long-term effects of this technique in wide cleft patients in terms of facial growth.

BACKGROUND: The mandible is an important structure that is located in the lower third of the face. Large mandibular defects after tumor resection cause loss of its function. This study assessed the outcomes and tumor recurrence after immediate mandibular reconstruction using a free fibula osteocutaneous flap following radical resection of ameloblastoma. METHODS: This is a retrospective non-randomized study of outcomes and tumor recurrence of all patients diagnosed with mandibular ameloblastoma from August 1997 until August 2017 (20 years) requiring free fibula osteocutaneous flap reconstruction at a single institution. The patients were identified through an electronic operative database; subsequently, their medical records and photo documentation were retrieved. RESULTS: Twenty-seven patients were included in this study. Eighteen patients were male, while nine were female. The majority of the patients (48.1%) were in their third decade of life when they were diagnosed with ameloblastoma. All of them underwent radical resection of the tumor with a surgical margin of 2 cm (hemimandibulectomy in cases with a large tumor) and immediate mandibular reconstruction with a free fibula osteocutaneous flap. Two patients required revision of a vascular anastomosis due to venous thrombosis postoperatively, while one patient developed a flap recipient site infection. The flap success rate was 100%. There was no tumor recurrence during a mean follow-up period of 5.6 years. CONCLUSIONS: Mandibular ameloblastoma should be treated with segmental mandibulectomy (with a surgical margin of 2 cm) to reduce the risk of recurrence. Subsequent mandibular and adjacent soft tissue defects should be reconstructed immediately with a free fibula osteocutaneous flap.
Ameloblastoma ; Female ; Fibula ; Follow-Up Studies ; Free Tissue Flaps ; Humans ; Male ; Mandible ; Mandibular Osteotomy ; Mandibular Reconstruction ; Medical Records ; Recurrence ; Retrospective Studies ; Venous Thrombosis

evere social and psychological problems. Tissueexpansion, although an old concept, provides a surgicalalternative to manage areas of alopecia. We describe a caseof alopecia secondary to repaired occipital encephalocelethat was successfully treated using tissue expansiontechnique.

High failure rate for recurrent palatal fistulas closure pose agreat challenge to plastic surgeons. Tongue and facial arterymusculomucosal (FAMM) flaps are the more commonly usedflaps for closure of these recurrent fistulas. We report a caseof a formerly inset FAMM flap to effectively close apreviously repaired oronasal fistula.

No abstract available.
Encephalocele*